A novel splice mutation in the ATP2C1 gene in a woman with concomitant psoriasis vulgaris and disseminated Hailey-Hailey disease

Sheau-Chiou Chao, Yu-Yun Lee, Meng Chi Wu, Mark Ming Long Hsu

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8 Citations (Scopus)

Abstract

Concurrent psoriasis vulgaris and Hailey-Hailey disease is very rare. The clinical and pathologic findings of widespread Hailey-Hailey disease in a 48-year-old woman with pre-existing generalized psoriasis vulgaris were described. In our patient, the vesicular eruption of Hailey-Hailey disease was obscured clinically by the psoriatic lesions. The diagnosis of both diseases was confirmed pathologically. The patient had a total of five skin biopsies performed over the neck, flank area, back, pubic area, and a finger. Acantholytic dyskeratosis, changes suggestive of Hailey-Hailey disease, were found in four specimens, psoriasis in two specimens, and both diseases in one specimen. The diagnosis of Hailey-Hailey disease was further confirmed by detecting a novel splice mutation (832G>A) in the ATP2C1 gene. Our case illustrated that diagnosis of disseminated Hailey-Hailey disease may easily be missed in a patient with a pre-existing generalized pruritic eruption, such as psoriasis. The appearance of eczematous vesicular eruption or eroded intertrigo-like lesions in a patient with pre-existing generalized eruption should raise a suspicion of Hailey-Hailey disease.

Original languageEnglish
Pages (from-to)947-951
Number of pages5
JournalInternational Journal of Dermatology
Volume51
Issue number8
DOIs
Publication statusPublished - 2012 Aug 1

All Science Journal Classification (ASJC) codes

  • Dermatology

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